Canonical Allele Identifier: CA373425816

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.36219986C>A , CM000671.2:g.36219986C>A GRCh38
NC_000009.11:g.36219983C>A , CM000671.1:g.36219983C>A GRCh37
NC_000009.10:g.36209983C>A NCBI36
NG_008246.1:g.62059G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000396594.8:c.1761G>T (GNE) MANE Plus Clinical ENSP00000379839.3:p.Leu587Phe
ENST00000543356.7:c.1491G>T (GNE) ENSP00000437765.3:p.Leu497Phe
ENST00000642385.2:c.1668G>T (GNE) MANE Select ENSP00000494141.2:p.Leu556Phe
ENST00000377902.5:c.1668G>T (GNE) ENSP00000367134.4:p.Leu556Phe
ENST00000396594.7:c.1761G>T (GNE) ENSP00000379839.3:p.Leu587Phe
ENST00000447283.6:c.1446G>T (GNE) ENSP00000414760.2:p.Leu482Phe
ENST00000464497.5:c.485+15807C>A (CLTA) ENSP00000419158.1:n.485+15807C>A
ENST00000539208.5:c.1338G>T (GNE) ENSP00000445117.1:p.Leu446Phe
ENST00000539815.5:c.1668G>T (GNE) ENSP00000439155.1:p.Leu556Phe
ENST00000543356.6:c.1653G>T (GNE) ENSP00000437765.2:p.Leu551Phe
NM_001128227.2:c.1761G>T (GNE) NP_001121699.1:p.Leu587Phe
NM_001190383.1:c.1446G>T (GNE) NP_001177312.1:p.Leu482Phe
NM_001190384.1:c.1338G>T (GNE) NP_001177313.1:p.Leu446Phe
NM_001190388.1:c.1653G>T (GNE) NP_001177317.1:p.Leu551Phe
NM_005476.5:c.1668G>T (GNE) NP_005467.1:p.Leu556Phe
XM_005251334.3:c.1608G>T (GNE) XP_005251391.1:p.Leu536Phe
NM_001190383.2:c.1446G>T (GNE) NP_001177312.1:p.Leu482Phe
NM_001190384.2:c.1338G>T (GNE) NP_001177313.1:p.Leu446Phe
NM_005476.6:c.1668G>T (GNE) NP_005467.1:p.Leu556Phe
XM_005251334.4:c.1608G>T (GNE) XP_005251391.1:p.Leu536Phe
XM_017014167.1:c.1668G>T (GNE) XP_016869656.1:p.Leu556Phe
XM_017014168.1:c.1515G>T (GNE) XP_016869657.1:p.Leu505Phe
NM_001128227.3:c.1761G>T (GNE) MANE Plus Clinical NP_001121699.1:p.Leu587Phe
NM_001190383.3:c.1446G>T (GNE) NP_001177312.1:p.Leu482Phe
NM_001190384.3:c.1338G>T (GNE) NP_001177313.1:p.Leu446Phe
NM_001190388.2:c.1491G>T (GNE) NP_001177317.2:p.Leu497Phe
NM_001374797.1:c.1515G>T (GNE) NP_001361726.1:p.Leu505Phe
NM_001374798.1:c.1491G>T (GNE) NP_001361727.1:p.Leu497Phe
NM_005476.7:c.1668G>T (GNE) MANE Select NP_005467.1:p.Leu556Phe